This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Glu316_Asp319delinsValArgIle;Asp321del;Cys323del;Gln325_Cys327del;Asn329_Asp345delinsArgIleProThrProAlaAlaSerSerAla]
CA2582474404
ENST00000535915.5:c.946_947insTCAGGATCCCGACG